Int J Med Sci
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Background: Silver-Russell syndrome (SRS; OMIM #180860) is a clinically and genetically heterogeneous imprinting disorder characterized by prenatal and postnatal growth failure. The aim of this study was to identify the epigenotype-phenotype correlations in these patients using quantitative DNA methylation analysis. Methods: One hundred and eighty-three subjects clinically suspected of having SRS were referred for diagnostic testing by the methylation profiling of H19-associated imprinting center (IC) 1 and imprinted PEG1/MEST regions using methylation-specific high-resolution melting analysis and methylation quantification with the MassARRAY assay. ⋯ Among the 90 subjects with an N-H score ≥ 4, the IC1 methylation level was significantly different between those with or without some clinical SRS features, including birth length ≤ 10th centile, relative macrocephaly at birth, normal cognitive development, body asymmetry, clinodactyly of the fifth finger, and genital abnormalities. Conclusions: This study confirmed the suitability of the N-H clinical scoring system as clinical diagnostic criteria for SRS. Quantitative DNA methylation analysis using the MassARRAY assay can improve the detection of epigenotype-phenotype correlations, further promoting better genetic counseling and multidisciplinary management for these patients.
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Purpose: To explore the clinical, epidemiological, and viral load characteristics of COVID-19 caused by the omicron variant. Methods: Based on the COVID-19 epidemic caused by SARS-CoV-2 Omicron BA.2 broke out in Shanghai, China. To analyze whether there is any association between clinical symptoms and viral load of COVID-19 with age, sex, and combined disease and whether the clinical symptoms and viral load are associated with vaccine-breakthrough infections. ⋯ However, the clinical symptoms in the vaccine breakthrough infection group were significantly more severe than those in the unvaccinated group (p < 0.001). Conclusions: We found that female patients, the elderly, and those with underlying comorbidities had longer clinical positive symptoms and viral loads. Although vaccination may not reduce clinical symptoms, it can shorten the viral load and the time required for virus clearance.
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Comparative Study
Comparison of Screws with Different Diameters in Subperiosteal Implant Application with Finite Element Analysis.
Purpose: This study aimed to assess subperiosteal implants concerning bone stress and screw displacement, utilizing finite element analysis to determine the optimal screw diameter for enhanced bone support. Methods: Computed tomography data were translated into STL format, generating two skull models. Subperiosteal implants were constructed on these models and placed accordingly. ⋯ However, the 1.5 mm screw exhibited less implant movement. Conclusion: The finite element analysis suggests the 2 mm screw diameter as more advantageous over the 1.5 mm variant for subperiosteal implants. Nevertheless, this investigation marks the initial stages in exploring this treatment option's potential.
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The current body of research points to a notable correlation between an imbalance in gut microbiota and the development of type 2 diabetes mellitus (T2D) as well as its consequential ailment, coronary artery disease (CAD). The complexities underlying the association, especially in the context of diabetic coronary artery disease (DCAD), are not yet fully understood, and the causal links require further clarification. In this study, a bidirectional Mendelian randomization (MR) methodology was utilized to explore the causal relationships between gut microbiota, T2D, and CAD. ⋯ Sensitivity assessments reinforce the notion that changes in Oxalobacter formigenes could pose a risk for DCAD. There is also evidence to suggest that DCAD may, in turn, affect the gut microbiota's makeup. Notably, a surge in serum TMAO levels in individuals with CAD, coinciding with a reduced presence of methanogens, has been identified as a potentially significant factor for future examination.
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Background: IgA nephropathy (IgAN) is a cause of chronic kidney disease (CKD). Tubular atrophy/interstitial fibrosis is associated with IgAN prognosis. However, simple tools for predicting pathological lesions of IgAN remain limited. ⋯ Furthermore, the nomogram demonstrated good discrimination (AUC: 0.87, 95% CI 0.81 to 0.93) and calibration in the validation cohort. Conclusion: The eGFRcr-cys and UPE are associated with tubular atrophy or interstitial fibrosis in patients with IgAN. Diagnostic nomogram can predict tubular atrophy or interstitial fibrosis in IgAN.